ClinVar Miner

List of variants in gene combination LOC110121269, SCN5A reported as likely benign for Cardiac arrhythmia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 58
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00034
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 0.00033
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000335.5(SCN5A):c.3375A>G (p.Pro1125=) rs372328054 0.00021
NM_000335.5(SCN5A):c.3228+6C>G rs368048551 0.00019
NM_000335.5(SCN5A):c.3344G>A (p.Arg1115Gln) rs369678002 0.00017
NM_000335.5(SCN5A):c.3207G>A (p.Thr1069=) rs371686822 0.00008
NM_000335.5(SCN5A):c.3047C>T (p.Thr1016Met) rs199473185 0.00006
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592 0.00006
NM_000335.5(SCN5A):c.3094G>A (p.Glu1032Lys) rs369565476 0.00006
NM_000335.5(SCN5A):c.3336C>T (p.Ala1112=) rs373679015 0.00006
NM_000335.5(SCN5A):c.2957G>A (p.Arg986Gln) rs41313667 0.00005
NM_000335.5(SCN5A):c.3359C>T (p.Ala1120Val) rs751938579 0.00005
NM_000335.5(SCN5A):c.3147C>T (p.Ile1049=) rs867787484 0.00004
NM_000335.5(SCN5A):c.3204C>T (p.Gly1068=) rs1464663200 0.00004
NM_000335.5(SCN5A):c.3003G>C (p.Leu1001=) rs758064769 0.00003
NM_000335.5(SCN5A):c.3033G>C (p.Pro1011=) rs764425131 0.00003
NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=) rs376734571 0.00003
NM_000335.5(SCN5A):c.3156C>T (p.Ala1052=) rs748975536 0.00003
NM_000335.5(SCN5A):c.3289G>T (p.Val1097Leu) rs199473191 0.00003
NM_000335.5(SCN5A):c.2886C>T (p.Ala962=) rs544057915 0.00002
NM_000335.5(SCN5A):c.2931C>G (p.Thr977=) rs780713625 0.00002
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=) rs193922725 0.00002
NM_000335.5(SCN5A):c.3132C>T (p.Pro1044=) rs547709944 0.00002
NM_000335.5(SCN5A):c.3297G>A (p.Ala1099=) rs1405503955 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.3382G>A (p.Gly1128Ser) rs879229776 0.00002
NM_000335.5(SCN5A):c.2788-5G>A rs200430037 0.00001
NM_000335.5(SCN5A):c.2826C>T (p.Phe942=) rs766950305 0.00001
NM_000335.5(SCN5A):c.2970G>A (p.Gln990=) rs771130219 0.00001
NM_000335.5(SCN5A):c.2988C>T (p.Ala996=) rs781529391 0.00001
NM_000335.5(SCN5A):c.3081G>A (p.Arg1027=) rs878967241 0.00001
NM_000335.5(SCN5A):c.3192G>A (p.Glu1064=) rs886039126 0.00001
NM_000335.5(SCN5A):c.3229-10T>C rs930323550 0.00001
NM_000335.5(SCN5A):c.3258G>A (p.Glu1086=) rs727504924 0.00001
NM_000335.5(SCN5A):c.3267G>A (p.Pro1089=) rs752999955 0.00001
NM_000335.5(SCN5A):c.3273C>T (p.Ser1091=) rs1057520359 0.00001
NM_000335.5(SCN5A):c.2788-15C>T rs1057522116
NM_000335.5(SCN5A):c.2820C>T (p.Ser940=) rs1418607202
NM_000335.5(SCN5A):c.2925G>A (p.Arg975=) rs878983121
NM_000335.5(SCN5A):c.2925G>C (p.Arg975=) rs878983121
NM_000335.5(SCN5A):c.2962C>A (p.Arg988=) rs768691853
NM_000335.5(SCN5A):c.3000G>A (p.Gln1000=) rs879148633
NM_000335.5(SCN5A):c.3033G>A (p.Pro1011=) rs764425131
NM_000335.5(SCN5A):c.3087G>A (p.Glu1029=) rs2125871068
NM_000335.5(SCN5A):c.3111C>T (p.Gly1037=) rs1057521031
NM_000335.5(SCN5A):c.3117C>G (p.Pro1039=) rs762151891
NM_000335.5(SCN5A):c.3117C>T (p.Pro1039=) rs762151891
NM_000335.5(SCN5A):c.3135G>T (p.Val1045=) rs1470214841
NM_000335.5(SCN5A):c.3159G>A (p.Glu1053=) rs775605367
NM_000335.5(SCN5A):c.3195C>T (p.Asn1065=) rs765371666
NM_000335.5(SCN5A):c.3229-18C>T rs535600394
NM_000335.5(SCN5A):c.3229-6C>T rs1298844321
NM_000335.5(SCN5A):c.3246C>A (p.Ser1082=)
NM_000335.5(SCN5A):c.3246C>G (p.Ser1082=) rs111422496
NM_000335.5(SCN5A):c.3267G>C (p.Pro1089=) rs752999955
NM_000335.5(SCN5A):c.3315C>T (p.Ala1105=) rs377603706
NM_000335.5(SCN5A):c.3327A>C (p.Ala1109=) rs878916838

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.